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rs61751362

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 2 increased risk of Rett syndrome and Autism
(T;T) 2.5 increased risk of Rett syndrome and Autism
ReferenceGRCh38 38.1/141
ChromosomeX
Position154030948
GeneMECP2
is asnp
is mentioned by
dbSNPrs61751362
ebirs61751362
HLIrs61751362
Exacrs61751362
Varsomers61751362
Maprs61751362
PheGenIrs61751362
hapmaprs61751362
1000 genomesrs61751362
hgdprs61751362
ensemblrs61751362
gopubmedrs61751362
geneviewrs61751362
scholarrs61751362
googlers61751362
pharmgkbrs61751362
gwascentralrs61751362
openSNPrs61751362
23andMers61751362
23andMe allrs61751362
SNP Nexus

SNPshotrs61751362
SNPdbers61751362
MSV3drs61751362
GWAS Ctlgrs61751362
Max Magnitude2.5
OMIM300005
Desc
Variant0011
Relatedalso


ClinVar
Risk rs61751362(G,T;G,T)
Alt rs61751362(G,T;G,T)
Reference rs61751362(C;C)
Significance Other
Disease Rett syndrome Autism not provided Mental retardation
Variation info
Gene MECP2
CLNDBN Rett syndrome Autism, susceptibility to, X-linked 3 not provided Mental retardation, X-linked, syndromic 13
Reversed 1
HGVS NC_000023.10:g.153296399G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000012590.23, RCV000012591.3, RCV000081215.6, RCV000178233.1,



[PMID 17387578] Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms.